Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protein JBTS17

The CPLANE1 gene is not yet fully characterized it is involved in autosomal recessive Joubert syndrome and orofaciodigital syndrome 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 17
CPLANE1
Orofaciodigital syndrome 06
CPLANE1

References:

1.

Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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2.

Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

external link
3.

Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

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4.

Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

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5.

Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.

external link
6.

Orphanet article

Orphanet ID 299619 external link
7.

NCBI article

NCBI 65250 external link
8.

OMIM.ORG article

Omim 614571 external link
Update: Aug. 14, 2020
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